Article
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
American journal of medical genetics. Part A - 1 May 2017
Dikow Nicola, Granzow Martin, Graul-Neumann Luitgard M, Karch Stephanie, Hinderhofer Katrin, Paramasivam Nagarajan, Behl Laura-Jane, Kaufmann Lilian, Fischer Christine, Evers Christina, Schlesner Matthias, Eils Roland, Borck Guntram, Zweier Christiane, Bartram Claus R, Carey John C, Moog Ute
Abstract excerpt
Recently, de novo heterozygous variants in DDX3X have been reported in about 1.5% of 2659 females with previously unexplained intellectual disability (ID). We report on the identification of DDX3X variants in two unrelated girls with clinical features of Toriello-Carey Syndrome (T-CS). In patient 1, the recurrent variant c.1703C>T; p.(P568L) was identified when reconsidering X-linked de novo heterozygous variants...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.